A novel 9 bp deletion in the filamin A gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

被引:14
作者
Stefanova, M
Meinecke, P
Gal, A
Bolz, H [1 ]
机构
[1] Univ Cologne, Inst Human Genet, D-5000 Cologne 41, Germany
[2] Med Univ Plovdiv, Dept Med Genet, Plovdiv, Bulgaria
[3] Altona Childrens Hosp, Clin Genet Unit, Hamburg, Germany
[4] Univ Hamburg, Hosp Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany
关键词
OPD-spectrum disorders; filamin A;
D O I
10.1002/ajmg.a.30484
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders. (C) 2005 Wiley-Liss, Inc.
引用
收藏
页码:386 / 390
页数:5
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